Varaico: Literature-Extracted Genetic Variants

SMPD1

599 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause o...

Pfam Domains

Metallophosaa 201–463UCSCCalcineurin-like phosphoesterase

ASMase_Caa 476–611UCSCAcid sphingomyelin phosphodiesterase C-terminal region

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 1

HGNC Alias Symbol

ASM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000543.5

p.P187T

c.559C>A

Surrounding Variants

1 paper

NM_000543.5

p.P187fs

c.559_560fs

4 papers

NM_000543.5

p.P187S

c.559C>T

9 papers

NM_000543.5

p.P188insFs

c.564dupC

2 papers

NM_000543.5

p.P187delFs

c.559delC

1 paper

NM_000543.5

p.P186insFs

c.557_558insG

14 papers

NM_000543.5

p.P186L

c.557C>T

2 papers

NM_000543.5

p.P186fs

c.556_557fs

1 paper

NM_000543.5

p.P186S

c.556C>T

1 paper

NM_000543.5

p.P188L

c.563C>T

1 paper

NM_000543.5

p.P186insFs

c.556dupC

1 paper

NM_000543.5

p.K185insFs

c.554_555insG

1 paper

NM_000543.5

p.K185M

c.554A>T